Conditions / Genetic
hyperphosphatasia with impaired intellectual development syndrome 5
info · Genetic
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.
Signs and symptoms
- Tented upper lip vermilion
- Hypsarrhythmia
- Wide nasal bridge
- Inguinal hernia
- Elevated circulating alkaline phosphatase concentration
- Profound global developmental delay
- Coarse facial features
- Widened subarachnoid space
- Severe global developmental delay
- Tonic seizure
Also known as: GPIBD11; HPMRS5; glycosylphosphatidylinositol biosynthesis defect 11; hyperphosphatasia with mental retardation syndrome 5